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OMIA 001683-9615 : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific name: Dry eye curly coat syndrome

Species-specific symbol: CKCSID

Mapping: By conducting a GWAS on 23 affected and 38 control Cavalier King Charles Spaniels, each genotyped with the Illumina Canine HD SNP chip (yielding 91,427 SNPs for analysis), Forman et al. (2012) highlighted a region on chromosome CFA13.

Molecular basis: By sequencing their candidate region (see Mapping section) in affected and normal dogs, Forman et al. (2012) eventually revealed the causative mutation as a "single base deletion in exon 5" in a gene with the somewhat unusual name of Family with sequence similarity 83, member H (FAM83H). Using the genetic variant nomenclature as of 2015, the cuastaive variant can be descripted as c.977delC or p.Pro326Hisfs*258.

Breed: Cavalier King Charles Spaniel.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FAM83H family with sequence similarity 83, member H Canis lupus familiaris 13 NC_006595.3 (37332421..37324090) FAM83H Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cavalier King Charles Spaniel Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis FAM83H deletion, small (<=20) c.977delC p.Pro326Hisfs*258 2012 22253609
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References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Guandalini, A., Di Girolamo, N., Corvi, R., Santillo, D., Andreani, V., Pinzo, B. :
Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol :, 2017. Pubmed reference: 29284193. DOI: 10.1111/vop.12542.
2012 Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. :
Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Hartley, C., Barnett, K.C., Pettitt, L., Forman, O.P., Blott, S., Mellersh, C.S. :
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study. Vet Ophthalmol 15:327-32, 2012. Pubmed reference: 22339941. DOI: 10.1111/j.1463-5224.2012.00987.x.
Hartley, C., Donaldson, D., Smith, K.C., Henley, W., Lewis, T.W., Blott, S., Mellersh, C., Barnett, K.C. :
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol 15:315-26, 2012. Pubmed reference: 22212237. DOI: 10.1111/j.1463-5224.2011.00986.x.
2006 Barnett, K.C. :
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-8, 2006. Pubmed reference: 16961470. DOI: 10.1111/j.1748-5827.2006.00107.x.

Edit History


  • Created by Frank Nicholas on 16 Jan 2012
  • Changed by Frank Nicholas on 26 Jan 2012
  • Changed by Frank Nicholas on 26 Jan 2013
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Tosso Leeb on 24 Dec 2015